WormBase Tree Display for Variation: WBVar00144413

WBVar00144413 Evidence: Person_evidence: WBPerson260
  Name: Public_name: e1942
    Other_name (18)
    HGVSg: CHROMOSOME_III:g.7731887C>T
  Sequence_details: SMap: S_parent: Sequence: ZK112
    Flanking_sequences: caacagcatgctcaactcaccgccatgatg aaggaattatgagcaacaacaatgtagcag
    Mapping_target: ZK112
    Type_of_mutation: Substitution: c t Person_evidence: WBPerson260
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004900
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003559
    Transcript: ZK112.2g.3 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2g.3:c.316C>T
        HGVSp: CE00373:p.Gln106Ter
        cDNA_position: 450
        CDS_position: 316
        Protein_position: 106
        Exon_number: 3/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2f.1:c.502C>T
        HGVSp: CE50296:p.Gln168Ter
        cDNA_position: 502
        CDS_position: 502
        Protein_position: 168
        Exon_number: 3/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2h.1:c.316C>T
        HGVSp: CE50238:p.Gln106Ter
        cDNA_position: 316
        CDS_position: 316
        Protein_position: 106
        Exon_number: 2/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2d.1:c.664C>T
        HGVSp: CE50175:p.Gln222Ter
        cDNA_position: 664
        CDS_position: 664
        Protein_position: 222
        Exon_number: 4/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2g.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2g.2:c.316C>T
        HGVSp: CE00373:p.Gln106Ter
        cDNA_position: 681
        CDS_position: 316
        Protein_position: 106
        Exon_number: 5/13
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2e.1:c.502C>T
        HGVSp: CE50121:p.Gln168Ter
        cDNA_position: 502
        CDS_position: 502
        Protein_position: 168
        Exon_number: 3/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2g.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2g.1:c.316C>T
        HGVSp: CE00373:p.Gln106Ter
        cDNA_position: 547
        CDS_position: 316
        Protein_position: 106
        Exon_number: 4/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2c.1:c.664C>T
        HGVSp: CE50320:p.Gln222Ter
        cDNA_position: 664
        CDS_position: 664
        Protein_position: 222
        Exon_number: 4/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2a.1:c.700C>T
        HGVSp: CE50144:p.Gln234Ter
        cDNA_position: 762
        CDS_position: 700
        Protein_position: 234
        Exon_number: 6/14
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK112.2b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK112.2b.1:c.700C>T
        HGVSp: CE50327:p.Gln234Ter
        cDNA_position: 700
        CDS_position: 700
        Protein_position: 234
        Exon_number: 5/13
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000534862
  Genetics: Interpolated_map_position: III -0.62866
  Description: Phenotype: WBPhenotype:0000722 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal large nucleoli in all cells; phenotype similar to e1865 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0002259 Paper_evidence: WBPaper00046432
        Curator_confirmed: WBPerson712
        Remark: Mutants do not exhibit a reduction in PVD neuron terminal dendrites. Paper_evidence: WBPaper00046432
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006831 PATO:0000460 Paper_evidence: WBPaper00046432
                Curator_confirmed: WBPerson712
          GO_term: GO:0044292 PATO:0001997 Paper_evidence: WBPaper00046432
                Curator_confirmed: WBPerson712
  Reference: WBPaper00015153
    WBPaper00016409
    WBPaper00014674
    WBPaper00046432
    WBPaper00061997
    WBPaper00065313
  Method: Substitution_allele